Works by Nadaf, Javad


Results: 27
    1
    2

    Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 438, doi. 10.1038/ng.2931
    By:
    • Witkowski, Leora;
    • Carrot-Zhang, Jian;
    • Albrecht, Steffen;
    • Fahiminiya, Somayyeh;
    • Hamel, Nancy;
    • Tomiak, Eva;
    • Grynspan, David;
    • Saloustros, Emmanouil;
    • Nadaf, Javad;
    • Rivera, Barbara;
    • Gilpin, Catherine;
    • Castellsagué, Ester;
    • Silva-Smith, Rachel;
    • Plourde, François;
    • Wu, Mona;
    • Saskin, Avi;
    • Arseneault, Madeleine;
    • Karabakhtsian, Rouzan G;
    • Reilly, Elizabeth A;
    • Ueland, Frederick R
    Publication type:
    Article
    3
    4

    Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
    By:
    • Hautakangas, Milla‐Riikka;
    • Widgren, Paula;
    • Korpelainen, Paavo;
    • Kangas, Salla M.;
    • Komulainen, Tuomas;
    • Vieira, Päivi;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Tuominen, Hannu;
    • Kokkonen, Hannaleena;
    • Miinalainen, Ilkka;
    • Nadaf, Javad;
    • Majewski, Jacek;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
    5

    Duplication 2p16 is associated with perisylvian polymicrogyria.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2343, doi. 10.1002/ajmg.a.61342
    By:
    • Amrom, Dina;
    • Poduri, Annapurna;
    • Goldman, Jennifer S.;
    • Dan3, Bernard;
    • Deconinck3, Nicolas;
    • Pichon, Bruno;
    • Nadaf, Javad;
    • Andermann, Frederick;
    • Andermann, Eva;
    • Walsh, Christopher A.;
    • Dobyns, William B.
    Publication type:
    Article
    6
    7

    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02306-5
    By:
    • Guéant, Jean-Louis;
    • Chéry, Céline;
    • Oussalah, Abderrahim;
    • Nadaf, Javad;
    • Coelho, David;
    • Josse, Thomas;
    • Flayac, Justine;
    • Robert, Aurélie;
    • Koscinski, Isabelle;
    • Gastin, Isabelle;
    • Filhine-Tresarrieu, Pierre;
    • Pupavac, Mihaela;
    • Brebner, Alison;
    • Watkins, David;
    • Pastinen, Tomi;
    • Montpetit, Alexandre;
    • Hariri, Fadi;
    • Tregouët, David;
    • Raby, Benjamin A;
    • Chung, Wendy K.
    Publication type:
    Article
    8

    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02306-5
    By:
    • Guéant, Jean-Louis;
    • Chéry, Céline;
    • Oussalah, Abderrahim;
    • Nadaf, Javad;
    • Coelho, David;
    • Josse, Thomas;
    • Flayac, Justine;
    • Robert, Aurélie;
    • Koscinski, Isabelle;
    • Gastin, Isabelle;
    • Filhine-Tresarrieu, Pierre;
    • Pupavac, Mihaela;
    • Brebner, Alison;
    • Watkins, David;
    • Pastinen, Tomi;
    • Montpetit, Alexandre;
    • Hariri, Fadi;
    • Tregouët, David;
    • Raby, Benjamin A;
    • Chung, Wendy K.
    Publication type:
    Article
    9
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    11
    12

    Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17186-5
    By:
    • Couturier, Charles P.;
    • Ayyadhury, Shamini;
    • Le, Phuong U.;
    • Nadaf, Javad;
    • Monlong, Jean;
    • Riva, Gabriele;
    • Allache, Redouane;
    • Baig, Salma;
    • Yan, Xiaohua;
    • Bourgey, Mathieu;
    • Lee, Changseok;
    • Wang, Yu Chang David;
    • Wee Yong, V.;
    • Guiot, Marie-Christine;
    • Najafabadi, Hamed;
    • Misic, Bratislav;
    • Antel, Jack;
    • Bourque, Guillaume;
    • Ragoussis, Jiannis;
    • Petrecca, Kevin
    Publication type:
    Article
    13

    DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

    Published in:
    2020
    By:
    • Rivera, Barbara;
    • Nadaf, Javad;
    • Fahiminiya, Somayyeh;
    • Apellaniz-Ruiz, Maria;
    • Saskin, Avi;
    • Chong, Anne-Sophie;
    • Sharma, Sahil;
    • Wagener, Rabea;
    • Revil, Timothée;
    • Condello, Vincenzo;
    • Harra, Zineb;
    • Hamel, Nancy;
    • Sabbaghian, Nelly;
    • Muchantef, Karl;
    • Thomas, Christian;
    • de Kock, Leanne;
    • Hébert-Blouin, Marie-Noëlle;
    • Bassenden, Angelia V.;
    • Rabenstein, Hannah;
    • Mete, Ozgur
    Publication type:
    journal article
    14

    A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00998-5
    By:
    • Fierheller, Caitlin T.;
    • Guitton-Sert, Laure;
    • Alenezi, Wejdan M.;
    • Revil, Timothée;
    • Oros, Kathleen K.;
    • Gao, Yuandi;
    • Bedard, Karine;
    • Arcand, Suzanna L.;
    • Serruya, Corinne;
    • Behl, Supriya;
    • Meunier, Liliane;
    • Fleury, Hubert;
    • Fewings, Eleanor;
    • Subramanian, Deepak N.;
    • Nadaf, Javad;
    • Bruce, Jeffrey P.;
    • Bell, Rachel;
    • Provencher, Diane;
    • Foulkes, William D.;
    • El Haffaf, Zaki
    Publication type:
    Article
    15
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    19

    PRAME protein expression in DICER1‐related tumours.

    Published in:
    Journal of Pathology: Clinical Research, 2022, v. 8, n. 6, p. 579, doi. 10.1002/cjp2.293
    By:
    • Thorner, Paul S;
    • Chong, Anne‐Sophie;
    • Nadaf, Javad;
    • Benlimame, Naciba;
    • Marrano, Paula;
    • Chami, Rose;
    • Fu, Lili;
    • Foulkes, William D
    Publication type:
    Article
    20

    PRAME protein expression in DICER1‐related tumours.

    Published in:
    Journal of Pathology: Clinical Research, 2022, v. 8, n. 3, p. 294, doi. 10.1002/cjp2.264
    By:
    • Thorner, Paul S;
    • Chong, Anne‐Sophie;
    • Nadaf, Javad;
    • Benlimame, Naciba;
    • Marrano, Paula;
    • Chami, Rose;
    • Fu, Lili;
    • Foulkes, William D
    Publication type:
    Article
    21
    22

    Molecular characterization of DICER1-mutated pituitary blastoma.

    Published in:
    Acta Neuropathologica, 2021, v. 141, n. 6, p. 929, doi. 10.1007/s00401-021-02283-6
    By:
    • Nadaf, Javad;
    • de Kock, Leanne;
    • Chong, Anne-Sophie;
    • Korbonits, Márta;
    • Thorner, Paul;
    • Benlimame, Naciba;
    • Fu, Lili;
    • Peet, Andrew;
    • Warner, Justin;
    • Ploner, Oswald;
    • Shuangshoti, Shanop;
    • Albrecht, Steffen;
    • Hamel, Nancy;
    • Priest, John R.;
    • Rivera, Barbara;
    • Ragoussis, Jiannis;
    • Foulkes, William D.
    Publication type:
    Article
    23

    <italic>NHLRC2</italic> variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

    Published in:
    Acta Neuropathologica, 2018, v. 135, n. 5, p. 727, doi. 10.1007/s00401-018-1817-z
    By:
    • Uusimaa, Johanna;
    • Kaarteenaho, Riitta;
    • Paakkola, Teija;
    • Tuominen, Hannu;
    • Karjalainen, Minna K.;
    • Nadaf, Javad;
    • Varilo, Teppo;
    • Uusi-Mäkelä, Meri;
    • Suo-Palosaari, Maria;
    • Pietilä, Ilkka;
    • Hiltunen, Anniina E.;
    • Ruddock, Lloyd;
    • Alanen, Heli;
    • Biterova, Ekaterina;
    • Miinalainen, Ilkka;
    • Salminen, Annamari;
    • Soininen, Raija;
    • Manninen, Aki;
    • Sormunen, Raija;
    • Kaakinen, Mika
    Publication type:
    Article
    24

    Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.

    Published in:
    Acta Neuropathologica, 2016, v. 131, n. 6, p. 847, doi. 10.1007/s00401-016-1549-x
    By:
    • Rivera, Barbara;
    • Gayden, Tenzin;
    • Carrot-Zhang, Jian;
    • Nadaf, Javad;
    • Boshari, Talia;
    • Faury, Damien;
    • Zeinieh, Michele;
    • Blanc, Romeo;
    • Burk, David;
    • Fahiminiya, Somayyeh;
    • Bareke, Eric;
    • Schüller, Ulrich;
    • Monoranu, Camelia;
    • Sträter, Ronald;
    • Kerl, Kornelius;
    • Niederstadt, Thomas;
    • Kurlemann, Gerhard;
    • Ellezam, Benjamin;
    • Michalak, Zuzanna;
    • Thom, Maria
    Publication type:
    Article
    25

    Invasive growth of brain metastases is linked to CHI3L1 release from pSTAT3-positive astrocytes.

    Published in:
    Neuro-Oncology, 2024, v. 26, n. 6, p. 1052, doi. 10.1093/neuonc/noae013
    By:
    • Dankner, Matthew;
    • Maritan, Sarah M;
    • Priego, Neibla;
    • Kruck, Georgia;
    • Nkili-Meyong, Andriniaina;
    • Nadaf, Javad;
    • Zhuang, Rebecca;
    • Annis, Matthew G;
    • Zuo, Dongmei;
    • Nowakowski, Alexander;
    • Biondini, Marco;
    • Kiepas, Alexander;
    • Mourcos, Caitlyn;
    • Le, Phuong;
    • Charron, François;
    • Inglebert, Yanis;
    • Savage, Paul;
    • Théret, Louis;
    • Guiot, Marie-Christine;
    • McKinney, R Anne
    Publication type:
    Article
    26

    Glioblastoma scRNA-seq shows treatment-induced, immune-dependent increase in mesenchymal cancer cells and structural variants in distal neural stem cells.

    Published in:
    Neuro-Oncology, 2022, v. 24, n. 9, p. 1494, doi. 10.1093/neuonc/noac085
    By:
    • Couturier, Charles P;
    • Nadaf, Javad;
    • Li, Zhaorong;
    • Baig, Salma;
    • Riva, Gabriele;
    • Le, Phuong;
    • Kloosterman, Daan J;
    • Monlong, Jean;
    • Meyong, Andriniaina Nkili;
    • Allache, Redouane;
    • Degenhard, Theresa;
    • Al-Rashid, Mariam;
    • Guiot, Marie-Christine;
    • Bourque, Guillaume;
    • Ragoussis, Jiannis;
    • Akkari, Leila;
    • Quintana, Francisco J;
    • Petrecca, Kevin
    Publication type:
    Article
    27

    Invasive growth associated with cold-inducible RNA-binding protein expression drives recurrence of surgically resected brain metastases.

    Published in:
    Neuro-Oncology, 2021, v. 23, n. 9, p. 1470, doi. 10.1093/neuonc/noab002
    By:
    • Dankner, Matthew;
    • Caron, Maxime;
    • Al-Saadi, Tariq;
    • Yu, WenQing;
    • Ouellet, Véronique;
    • Ezzeddine, Rima;
    • Maritan, Sarah M;
    • Annis, Matthew G;
    • Le, Phuong Uyen;
    • Nadaf, Javad;
    • Neubarth, Noah S;
    • Savage, Paul;
    • Zuo, Dongmei;
    • Couturier, Charles P;
    • Monlong, Jean;
    • Djambazian, Haig;
    • Altoukhi, Huda;
    • Bourque, Guillaume;
    • Ragoussis, Jiannis;
    • Diaz, Roberto J
    Publication type:
    Article